N-CoR, Lymphoid Development & Severe Combined Immune Deficiency
Principal Investigator: Michael B. Jordan, MD
The most severe immune deficiency affecting children, known as severe combined immune deficiency (SCID), is caused by a variety of genetic defects blocking development of T cells, the most important cell type in the immune system. We have identified a patient with SCID who does not have any of the known cause of this disorder, but instead has unique mutations in a master regulator gene, which is known to be critical for T cell development in experimental animals.
Our project will define how these mutations alter immune development and will potentially define a new cause for SCID, teach us new and unexpected things about immune development, and will have implications for a variety of immune diseases.